Linked Data
dbSNP Id:
rs766553514
ExAC:
11:66281883 G / A
gnomAD v2:
11-66281883-G-A
gnomAD v4:
11-66514412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514412G>A , CM000673.2:g.66514412G>A | GRCh38 |
| NC_000011.9:g.66281883G>A , CM000673.1:g.66281883G>A | GRCh37 |
| NC_000011.8:g.66038459G>A | NCBI36 |
| NG_009093.1:g.8765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.166G>A MANE Select | ENSP00000317469.7:p.Val56Ile | |
| ENST00000318312.11:c.166G>A | ENSP00000317469.7:p.Val56Ile | |
| ENST00000393994.4:c.166G>A | ENSP00000377563.2:p.Val56Ile | |
| ENST00000419755.3:c.277G>A | ENSP00000398526.3:p.Val93Ile | |
| ENST00000455748.6:c.166G>A | ENSP00000405764.2:p.Val56Ile | |
| ENST00000524458.5:c.41G>A | ENSP00000436195.1:p.Gly14Asp | |
| ENST00000524705.2:c.-20-94G>A | ENSP00000436927.1:n.-20-94G>A | |
| ENST00000524907.5:n.156G>A | ||
| ENST00000525809.5:c.160-1128G>A | ENSP00000431187.1:n.160-1128G>A | |
| ENST00000526035.5:c.131G>A | ENSP00000434197.1:p.Gly44Asp | |
| ENST00000526760.5:c.131G>A | ENSP00000432140.1:p.Gly44Asp | |
| ENST00000526815.5:c.76G>A | ENSP00000436860.1:p.Val26Ile | |
| ENST00000527251.5:c.41G>A | ENSP00000434360.1:p.Gly14Asp | |
| ENST00000529766.5:n.173G>A | ||
| ENST00000529955.5:n.184G>A | ||
| ENST00000532908.5:c.131G>A | ENSP00000431866.1:p.Gly44Asp | |
| ENST00000533557.5:c.131G>A | ENSP00000434619.1:p.Gly44Asp | |
| ENST00000533644.5:c.166G>A | ENSP00000436073.1:p.Val56Ile | |
| ENST00000534730.5:n.178G>A | ||
| ENST00000630659.2:c.131G>A | ENSP00000486455.1:p.Gly44Asp | |
| NM_024649.4:c.166G>A | NP_078925.3:p.Val56Ile | |
| NM_024649.5:c.166G>A MANE Select | NP_078925.3:p.Val56Ile |